LOCUS       NP_789794                715 aa            linear   PRI 20-OCT-2024
DEFINITION  BBSome complex member BBS7 isoform a [Homo sapiens].
ACCESSION   NP_789794
VERSION     NP_789794.1
DBSOURCE    REFSEQ: accession NM_176824.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 715)
  AUTHORS   Kantaputra,P., Dejkhamron,P., Sittiwangkul,R., Katanyuwong,K.,
            Ngamphiw,C., Sonsuwan,N., Intachai,W., Tongsima,S., Beales,P.L. and
            Buranaphatthana,W.
  TITLE     Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2,
            BBS7, and EVC2 Mutations
  JOURNAL   Genes (Basel) 14 (1), 84 (2022)
   PUBMED   36672825
  REMARK    GeneRIF: Dental Anomalies in Ciliopathies: Lessons from Patients
            with BBS2, BBS7, and EVC2 Mutations.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 715)
  AUTHORS   Aleman,T.S., O'Neil,E.C., O'Connor,K., Jiang,Y.Y., Aleman,I.A.,
            Bennett,J., Morgan,J.I.W. and Toussaint,B.W.
  TITLE     Bardet-Biedl syndrome-7 (BBS7) shows treatment potential and a
            cone-rod dystrophy phenotype that recapitulates the non-human
            primate model
  JOURNAL   Ophthalmic Genet 42 (3), 252-265 (2021)
   PUBMED   33729075
  REMARK    GeneRIF: Bardet-Biedl syndrome-7 (BBS7) shows treatment potential
            and a cone-rod dystrophy phenotype that recapitulates the non-human
            primate model.
REFERENCE   3  (residues 1 to 715)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (residues 1 to 715)
  AUTHORS   Ludlam,W.G., Aoba,T., Cuellar,J., Bueno-Carrasco,M.T., Makaju,A.,
            Moody,J.D., Franklin,S., Valpuesta,J.M. and Willardson,B.M.
  TITLE     Molecular architecture of the Bardet-Biedl syndrome protein 2-7-9
            subcomplex
  JOURNAL   J Biol Chem 294 (44), 16385-16399 (2019)
   PUBMED   31530639
  REMARK    GeneRIF: Authors found that within this structure, BBS2 and BBS7
            form a tight dimer through a coiled-coil interaction and that BBS9
            associates with the dimer via an interaction with the alpha-helical
            domain of BBS2. Interestingly, a BBS-associated mutation of BBS2 is
            located in its alpha-helical domain at the interface between BBS2
            and BBS9, and binding experiments indicated that this mutation
            disrupts the BBS2-BBS9 interaction.
REFERENCE   5  (residues 1 to 715)
  AUTHORS   Nachury,M.V., Loktev,A.V., Zhang,Q., Westlake,C.J., Peranen,J.,
            Merdes,A., Slusarski,D.C., Scheller,R.H., Bazan,J.F.,
            Sheffield,V.C. and Jackson,P.K.
  TITLE     A core complex of BBS proteins cooperates with the GTPase Rab8 to
            promote ciliary membrane biogenesis
  JOURNAL   Cell 129 (6), 1201-1213 (2007)
   PUBMED   17574030
REFERENCE   6  (residues 1 to 715)
  AUTHORS   Badano,J.L., Leitch,C.C., Ansley,S.J., May-Simera,H., Lawson,S.,
            Lewis,R.A., Beales,P.L., Dietz,H.C., Fisher,S. and Katsanis,N.
  TITLE     Dissection of epistasis in oligogenic Bardet-Biedl syndrome
  JOURNAL   Nature 439 (7074), 326-330 (2006)
   PUBMED   16327777
REFERENCE   7  (residues 1 to 715)
  AUTHORS   Badano,J.L., Ansley,S.J., Leitch,C.C., Lewis,R.A., Lupski,J.R. and
            Katsanis,N.
  TITLE     Identification of a novel Bardet-Biedl syndrome protein, BBS7, that
            shares structural features with BBS1 and BBS2
  JOURNAL   Am J Hum Genet 72 (3), 650-658 (2003)
   PUBMED   12567324
  REMARK    GeneRIF: A novel Bardet-Biedl syndrome protein is identified anad
            characterized.
REFERENCE   8  (residues 1 to 715)
  AUTHORS   Katsanis,N., Ansley,S.J., Badano,J.L., Eichers,E.R., Lewis,R.A.,
            Hoskins,B.E., Scambler,P.J., Davidson,W.S., Beales,P.L. and
            Lupski,J.R.
  TITLE     Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian
            recessive disorder
  JOURNAL   Science 293 (5538), 2256-2259 (2001)
   PUBMED   11567139
REFERENCE   9  (residues 1 to 715)
  AUTHORS   Gunay-Aygun,M., Gahl,W.A. and Heller,T.
  TITLE     Congenital Hepatic Fibrosis Overview horizontal line RETIRED
            CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301743
REFERENCE   10 (residues 1 to 715)
  AUTHORS   Forsyth,R. and Gunay-Aygun,M.
  TITLE     Bardet-Biedl Syndrome Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301537
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX510161.1, BC032691.1,
            AK308076.1, AC079341.6 and DB139794.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes one of eight proteins that form the
            BBSome complex containing BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9
            and BBIP10. The BBSome complex is believed to recruit Rab8(GTP) to
            the primary cilium and promote ciliogenesis. The BBSome complex
            assembly is mediated by a complex composed of three chaperonin-like
            BBS proteins (BBS6, BBS10, and BBS12) and CCT/TRiC family
            chaperonins. Mutations in this gene are implicated in Bardet-Biedl
            syndrome, a genetic disorder whose symptoms include obesity,
            retinal degeneration, polydactyly and nephropathy; however,
            mutations in this gene and the BBS8 gene are thought to play a
            minor role and mutations in chaperonin-like BBS genes are found to
            be a major contributor to disease development in a multiethnic
            Bardet-Biedl syndrome patient population. Two transcript variants
            encoding distinct isoforms have been identified for this
            gene.[provided by RefSeq, Oct 2014].
            
            Transcript Variant: This variant (1) represents the longer
            transcript, and encodes the longer isoform (a).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.18929.1,
                                           SRR1803614.210157.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000264499.9/ ENSP00000264499.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..715
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q27"
     Protein         1..715
                     /product="BBSome complex member BBS7 isoform a"
                     /note="BBS2-like 1; Bardet-Biedl syndrome 7 protein;
                     BBSome complex member BBS7"
                     /calculated_mol_wt=80222
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q8IWZ6.2)"
     Region          <203..268
                     /region_name="BBS2_Mid"
                     /note="Ciliary BBSome complex subunit 2, middle region;
                     pfam14783"
                     /db_xref="CDD:405473"
     CDS             1..715
                     /gene="BBS7"
                     /gene_synonym="BBS2L1"
                     /coded_by="NM_176824.3:162..2309"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS3724.1"
                     /db_xref="GeneID:55212"
                     /db_xref="HGNC:HGNC:18758"
                     /db_xref="MIM:607590"
ORIGIN      
        1 mdlilnrmdy lqvgvtsqkt mklipasrhr atqkvvigdh dgvvmcfgmk kgeaaavfkt
       61 lpgpkiarle lggvintpqe kifiaaasei rgftkrgkqf lsfetnltes ikamhisgsd
      121 lflsasyiyn hycdckdqhy ylsgdkindv iclpverlsr itpvlacqdr vlrvlqgsdv
      181 myavevpgpp tvlalhngng gdsgedllfg tsdgklaliq ittskpvrkw eiqnekkrgg
      241 ilcidsfdiv gdgvkdllvg rddgmvevys fdnanepvlr fdqmlsesvt siqggcvgkd
      301 sydeivvsty sgwvtgltte pihkesgpge elkinqemqn kisslrnele hlqykvlqer
      361 enyqqssqss kaksavpsfg indkftlnkd dasyslilev qtaidnvliq sdvpidlldv
      421 dknsavvsfs scdsesndnf llatyrcqad ttrlelkirs iegqygtlqa yvtpriqpkt
      481 cqvrqyhikp lslhqrthfi dhdrpmntlt ltgqfsfaev hswvvfclpe vpekppagec
      541 vtfyfqntfl dtqlestyrk gegvfksdni stisilkdvl skeatkrkin lnisyeinev
      601 svkhtlklih pkleyqllla kkvqlidalk elqihegntn flipeyhcil eeadhlqeey
      661 kkqpahlerl ygmitdlfid kfkfkgtnvk tkvpllleil dsydqnalis ffdaa
//
